Read about gene faults that can be tested for here.

Bowel cancer is the 4th most common type of cancer in the UK. Some inherited genes can increase the risk of developing bowel cancer and cause the conditions mentioned here.

Familial adenomatous polyposis (FAP)

FAP is caused by a fault in the APC gene. It is a rare disease that causes around 1 in 100 bowel cancers (1%). A faulty APC gene can cause hundreds of non cancerous (benign) growths called polyps to develop in the bowel at a young age. If left untreated, all people with this syndrome will almost certainly develop bowel cancer by their 40s.

Some people can develop FAP without any history of bowel cancer in their family. This means that the gene fault has happened for the first time in that person.

MYH associated polyposis (MAP)

MAP is caused by faults in the MYH gene (also called MUTYH gene). It is much rarer than FAP (familial adenomatous polyposis). To have MAP, a person needs to have 2 faulty copies of the MYH (MUTYH) gene, 1 from each parent. People with MAP develop polyps and are likely to develop bowel cancer under the age of 50.

Lynch syndrome

Lynch syndrome is also called hereditary non polyposis colon cancer (HNPCC). It is caused by faults in the MLH1, MSH2, MSH6 and PMS2 genes. Lynch syndrome is rare and accounts for about 3 out of every 100 bowel cancers (3%). Between 70 and 90 out of 100 people with Lynch syndrome (70 to 90%) develop bowel cancer. Most of the bowel cancers occur under the age of 50.

People with Lynch syndrome also have an increased risk of developing other cancers including womb and ovarian cancer in women. Other cancers that Lynch syndrome may cause include stomach, small bowel and gallbladder. These are all rare and most people with Lynch syndrome do not develop these other cancers.

Peutz Jeghers syndrome (PJS)

PJS is linked to a gene fault called STK11. Peutz Jeghers syndrome increases the risk of bowel cancer as well as other types of cancer. If someone has PJS, the skin around the mouth, nostrils, eyes, and near the back passage may be darker than surrounding skin. PJS is very rare so it is difficult to find any reliable figures about how many bowel cancers it may cause.

Juvenile Polyposis Syndrome (JPS)

JPS is linked to the BMPR1A and SMAD4 genes. A fault in one of these genes can cause polyps in the stomach and small bowel. Juvenile is the name of the type of polyp and is not related to the age at which the polyps develop. It is not clear how much JPS increases the risk of developing bowel cancer.

Could I be at higher risk?

If a close member of your family has had bowel or womb cancer and you are worried that you may be at higher risk, see your GP. Your GP can check your family history and refer you to a genetic clinic if necessary.

If you are at higher risk

If you have one of the inherited bowel conditions or you are known to have a gene fault that increases bowel cancer risk, your specialist will suggest that you have regular bowel screening.

Breast cancer is a common cancer and 1 in 8 women develop it during their lifetime in the UK. Researchers think that around 5 to 10 out of 100 breast cancers (5 to 10%) are caused by an inherited faulty gene. The genes that significantly increase the risk of breast cancer and can be tested for are BRCA1, BRCA2, TP53, PALB2 and PTEN. Occasionally when someone who has had breast cancer has a test for the BRCA genes the test can show changes in another gene such as CHEK2, but much less is known about most of the other genes.

BRCA1 and BRCA2 genes

Faulty BRCA1 and BRCA2 genes are rare. Specialists estimate that around 7 in 10 women (70%) with faults in either BRCA gene will develop breast cancer by the age of 80. These genes also increase the risk of ovarian cancer and BRCA2 increases the risk of male breast cancer and prostate cancer.

TP53 and PTEN

Faults in TP53 and PTEN are even rarer than BRCA1 and BRCA2 mutations. The TP53 gene normally controls when a cell divides. It is a type of tumour suppressor gene. It causes breast cancer as part of a rare cancer syndrome called Li Fraumeni syndrome. PTEN is the gene fault that causes a rare condition called Cowden syndrome. It increases the risk of breast cancer.

PALB2

Faults (mutations) in the PALB2 gene are rarer than BRCA1 and BRCA2 mutations. They are known to increase breast cancer risk. It is unclear if the risk of ovarian cancer is increased.

Other genes and breast cancer

Faults in a number of genes and genetic variations known as SNP's are linked to the risk of breast cancer. Women can have one or more of these gene changes. Finding these changes has helped scientists understand how breast cancer develops. For example, changes in 18 specific SNP's have been found to be predictive of breast cancer for women with an increased risk because of their family history. It might be several years before tests are developed for these other genes.

Could I be at higher risk?

If a close member of your family has had breast or ovarian cancer and you are worried that you may be at higher risk, see your GP. Your GP can check your family history and refer you to a genetic clinic if necessary.

If you are at higher risk

If you are known to have a gene that increases your breast cancer risk, your specialist will suggest that you have regular screening or treatments to reduce your risk. Depending on your age and how high your risk is you may consider having risk reducing breast surgery.

Kidney cancer is the 7th most common cancer in the UK. 1 in 52 men and 1 in 87 women develop it in the UK during their lifetime.

We know that if a person has a family history of kidney cancer their risk is increased. This may be because of a shared way of life or more rarely because of inherited faulty genes. Researchers are looking into which genes may increase the risk of developing kidney cancer. We know that there are a number of inherited conditions that increase the risk of developing it. These conditions are very rare and are thought to account for between 2 and 4 in every 100 (2 to 4%) kidney cancers. They include the conditions below.

Von Hippel Lindau (VHL) syndrome

Von Hippel Lindau syndrome is a rare inherited condition caused by faults in the VHL gene. Kidney cysts are common in VHL syndrome. These cysts do not usually affect how the kidney works, but sometimes a type of kidney cancer called clear cell renal cell cancer (CCRCC) can develop in a cyst. People who carry the gene fault also have an increased risk of developing other rare cancers in the brain, spine, pancreas, eyes and inner ear.

Tuberous sclerosis (TS)

Tuberous sclerosis is a rare condition caused by faults in the TSC1 and TSC2 genes. It can cause skin, brain and heart problems, as well as kidney disease. People with TS have an increased risk of kidney cysts and papillary kidney cancer.

Birt Hogg Dube syndrome (BHDS)

Birt Hogg Dube syndrome (also known as BHDS) is caused by faults in the FLCN gene (also known as BHD). People with BHDS develop multiple benign skin tumours (fibrofolliculomas) on the face, neck and upper body. People with BHDS are at increased risk of kidney cancer. It is a very rare condition and the number of people and families with BHDS is not known.

Isolated hereditary papillary renal cell cancer (HPRCC)

HPRCC is caused by faults in the MET gene. It is a very rare condition and the number of people with HPRCC is unknown. Doctors may suspect it in families when several family members have papillary renal cell carcinoma.

Hereditary leiomyomatosis and renal carcinoma (HLRCC)

HLRCC is caused by faults in the FH gene. People with HLRCC have benign skin tumours (cutaneous leiomyomata), fibroids in the womb (uterine leiomyomata), and may have kidney cancer. Papillary renal cancer is the most common kidney cancer type in HLRCC, but other types, such as tubulo papillary renal cell cancer and collecting duct renal cell cancer, can develop. It is a very rare condition and the number of people with HLRCC is not known.

Could I be at higher risk?

If a close member of your family has had kidney cancer and you are worried that you may be at higher risk, see your GP. Your GP can check your family history and refer you to a genetic clinic if necessary.

Melanoma is a type of cancer that usually occurs in the skin. In the UK, around 15,400 people are diagnosed with melanoma each year. The main cause of melanoma is too much exposure to ultraviolet light, from sunlight or from artificial sources such as sun beds. About 1 in 10 people (10%) who have melanoma have a strong family history of the disease. People with a family history of melanoma are at increased risk.

Familial atypical multiple mole melanoma syndrome (FAMMM)

Researchers have found that familial atypical multiple mole melanoma syndrome (FAMMM) increases the risk of developing melanoma. People who have FAMMM have more than 50 moles and at least one close relative has been diagnosed with a melanoma. A close relative is a parent, brother, sister, child, aunt, uncle or grandparent. Some families with FAMMM are also at a higher risk of developing pancreatic cancer.

CDKN2A

The gene CDKN2A is linked to familial cases of melanoma. But not everyone who has a CDKN2A gene fault develops melanoma. Even if someone is found to have a faulty CDKN2A gene they may not go on to develop melanoma. So, although there is a test for the CDKN2A gene it is not clear how useful this is.

Research suggests that the risk of melanoma linked to the CDKN2A fault varies depending on where in the world someone lives. For example, people who live in Australia have a higher risk than those in the UK. Researchers think that factors such as other gene changes or environmental factors may also change the amount that someone's risk is increased by having a faulty CDKN2A gene.

Research is continuing to try to find out about other genes that may cause melanoma.

If you have a family history of melanoma

If close members of your family have had melanoma and you are worried that you may be at higher risk, see your GP. Your GP can check your family history and refer you to a genetic clinic if necessary.

On average, around 2 out of every 100 women in the UK (2%) will develop ovarian cancer during their lifetime . The faulty genes that are known to increase the risk of ovarian cancer and can be tested for are BRCA1, BRCA2, and the genes that cause Lynch syndrome.

BRCA genes

5 to 15 out of every 100 (5 to 15%) of women with ovarian cancer have a faulty gene. In most cases, they will have either a faulty BRCA1 or BRCA2 gene.

A BRCA2 gene fault also increases the risk of breast cancer in men and prostate cancer.

Lynch syndrome (HNPCC)

Lynch syndrome is also called HNPCC (hereditary non polyposis colorectal cancer). The faulty genes that cause it are MLH1, MSH2, MSH6 and PMS2. Lynch syndrome is more commonly linked to bowel cancer but can also increase the risk of ovarian cancer. Between 10 and 12 out of 100 women (10 to 12%) with Lynch syndrome will develop ovarian cancer. Researchers think that around 2 out of every 100 ovarian cancers diagnosed (2%) are linked to Lynch syndrome.

Could I be at higher risk?

If close members of your family have had ovarian, breast or bowel cancer at a young age and you are worried that you may be at higher risk, see your GP. Your GP can check your family history and refer you to a genetic clinic if necessary.

If you have a faulty gene

If you have a faulty gene that increases the risk of ovarian cancer, what happens next will depend on which gene you have. Your specialist may suggest regular screening. Researchers are looking into the best way to do this. Or, depending on your age and whether you’ve had all the children you want to have, you may choose to have surgery to remove your ovaries and fallopian tubes.

In the UK, around 1 in 71 people will develop pancreatic cancer at some point in their lifetime. Researchers estimate that a cancer gene fault causes about 10 in 100 pancreatic cancers (10%). Although they can see that it can run in families, scientists haven’t found a single gene fault that causes this, so there isn’t a test at the moment.

Cancer of the pancreas can also develop as part of one of the family cancer syndromes, when different types of cancer occur in the same family. The genes mentioned here can increase the risk of other types of cancer as well as pancreatic cancer.

Tests are available for

The faulty BRCA2 gene, which increases the risk of breast, ovarian and prostate cancer

The STK11 gene fault, which causes Peutz-Jeghers syndrome and increases the risk of bowel and other cancers

Could I be at higher risk?

If close members of your family have had pancreatic cancer and you are worried that you may be at higher risk, see your GP. Your GP can check your family history and refer you to a genetic clinic if necessary.

Researchers are looking into the best way of monitoring people with a strong family history of pancreatic cancer. If your doctor thinks you have a strong family history, you may be able to have regular screening as part of a research project.

Prostate cancer is now the most common cancer in men. It affects 1 in 8 men in the UK at some point in their lifetime. It is most common over the age of 70. Scientists have found a number of genes that increase the risk of prostate cancer. At the moment there is only a test available for the BRCA2 gene. This gene is more commonly linked to breast and ovarian cancer.

BRCA2 gene and prostate cancer

Men who carry a faulty BRCA2 gene are at higher risk of developing prostate cancer.

BRCA1 gene and prostate cancer

Researchers have looked at the BRCA1 gene, which increases the risk of breast and ovarian cancer. The situation with prostate cancer is less clear and some studies have found that it doesn’t significantly increase the risk of prostate cancer. We need more research to find out whether it does increase the risk.

A trial is looking at men who have an increased risk of developing prostate cancer because they have faulty BRCA1 or BRCA2 genes. The trial is looking at whether a blood test called prostate specific antigen (PSA) combined with a biopsy, is a good way of picking up prostate cancer early in these men. It is called the IMPACT study.

Lynch syndrome (HNPCC) and prostate cancer

There is some evidence that men who have Lynch syndrome due to faults in the MLH1, MSH2, or MSH6 have an increased risk of prostate cancer.

Could I be at higher risk?

If close members of your family have had prostate cancer and you are worried that you may be at higher risk, see your GP. Your GP can check your family history and refer you to a genetic clinic if necessary.

If you have a faulty gene

If you have a gene test and a faulty gene is found, what happens next depends on which gene is faulty.

Retinoblastoma is a rare cancer that develops in young children. Around 45 children get retinoblastoma every year in the UK. Most cases occur before the age of 5 years. This cancer affects the part of the eye called the retina that detects light and colour.

About 40 out of 100 children who develop retinoblastoma (40%) have inherited a faulty gene called RB1. The cause of the other 60 out of 100 (60%) cases is unknown.

If you have a family history of retinoblastoma

Children who have a parent, or brother or sister, who had retinoblastoma should be checked for retinoblastoma. They usually have screening from birth to the age of 3 years. This involves regular eye examinations under a general anaesthetic. How often and how long a child has screening for depends on their level of risk.

Some children might also have a blood test for the RB1 gene. This is only possible if the family member who has had retinoblastoma can be tested first.

About 3,400 people are diagnosed with thyroid cancer each year in the UK. There are a number of different types of thyroid cancer.

Papillary thyroid cancer

Papillary thyroid cancer is the most common type and this type is rarely caused by an inherited faulty gene.

Medullary thyroid cancer and related syndromes

Medullary thyroid cancer is a rare type of thyroid cancer. Between 3 and 10 out of every 100 thyroid cancers (3 to 10%) are this type. About a quarter (25%) of medullary thyroid cancers are caused by an inherited faulty gene which runs in the family.

Faulty genes may cause medullary thyroid cancer as part of rare syndromes called multiple endocrine neoplasia or MEN for short. The types of MEN that cause thyroid cancer are MEN2a and MEN2b.

People with MEN2a are also at higher risk of developing a rare type of cancer of the adrenal gland and overactive parathyroid glands. People with MEN2b are at higher risk of getting adrenal cancer and small growths on their tongue and lips.

If 4 or more members of a family have a medullary thyroid cancer but don’t have any other cancer or a condition that may be linked to MEN, doctors usually diagnose it as familial medullary thyroid cancer (FMTC for short).

Could I be at higher risk?

If close members of your family have had thyroid cancer and you are worried that you may be at higher risk, see your GP. Your GP can check your family history and refer you to a genetic clinic if necessary.

About 2 in 100 women (2%) in the general population will develop womb cancer in their lifetime. Between 40 and 60 out of 100 women (40 to 60%) with a rare condition called Lynch syndrome will get womb cancer. Lynch syndrome is caused by faults in the MLH1, MSH2, MSH6 and PMS2 genes. It also increases the risk of developing a number of other cancers, including bowel and ovarian cancer.

Another gene that increases the risk of womb cancer is a faulty PTEN gene. This gene is faulty as part of a rare condition called Cowden syndrome.

Could I be at higher risk?

If close members of your family have had womb cancer, bowel cancer or ovarian cancer, and you are worried that you may be at higher risk, see your GP. Your GP can check your family history and refer you to a genetic clinic if necessary.

If you think you might have an inherited cancer gene

If you think there may be a cancer gene fault in your family, you need to go to your GP. Your GP will talk to you about your family history. If they think you may have a strong family history of cancer they will refer you to a genetic clinic. There you will see a genetics counsellor who can begin to look into the number of cancer cases in your family.

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